远端关节挛缩症合并脊柱侧凸一例

A Case of Distal Arthrogryposis Combined with Scoliosis

远端关节挛缩症是一种罕见的疾病,是由编码参与肌纤维收缩的蛋白质相关基因突变引起的。其关节挛缩主要涉及到远端关节挛缩,脊柱侧凸常伴随骨盆倾斜和异常前凸。本文回顾了一例远端关节挛缩症合并脊柱侧凸患者的临床特点。该患者为14岁男性,6年前无明显诱因发现背不平,近年来侧凸逐渐加重。患者自幼发现双手和双侧膝关节屈曲挛缩,未行特殊治疗。脊柱活动无明显受限,胸段右侧凸,腰段左侧凸。基因诊断为MYL11基因突变,符合远端关节挛缩症合并脊柱侧凸临床表现。择期行后路脊柱侧凸矫形、生长棒置入术。手术过程顺利,躯干平衡满意。现对该疾病的临床特点进行总结,以提高对疾病的认识。

Distal arthrogryposis is a rare disease caused by mutations in genes encoding proteins in-volved in muscle fiber contraction.Its joint contracture mainly involves distal joint contracture,and scoliosis is often accompanied by pelvic tilt and abnormal lordosis.This article reviewed the clinical characteristics of a patient with distal arthrogryposis combined with scoliosis.The patient was a 14-year-old male.His back was found that uneven 6 years ago for no obvious reason,and his scoliosis was gradually worsened.The patient had flexion contractures of both hands and bilateral knees since childhood,and no special treatment was given.There was no obvious restriction in the movement of the spine,the thoracic segment was convex on the right side,and the lumbar segment was convex on the left side.The genetic diagnosis was MYL11 gene muta-tion,which was consistent with the clinical manifestations of distal arthrogryposis combined with scoliosis.Posterior scoliosis correction and growing rod placement were performed electively.The operation went smoothly and the trunk balance was satisfactory.The clinical characteristics of this disease are summarized to improve our understanding of the disease.